Product Details

SNP ID
rs138607943
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:58492468 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCAAGGTGCAAAGTGAAATCCTCC[A/T]TAGCTGTCCGGATGTTGAGGGAGGC
Phenotype
MIM: 118455
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
CYP7A1 PubMed Links

Gene Details

Gene
CYP7A1
Gene Name
cytochrome P450 family 7 subfamily A member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000780.3 1163 Missense Mutation AAG,ATG K367M NP_000771.2

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